chr6:3019881:G>C Detail (hg19) (NQO2)

Information

Genome

Assembly Position
hg19 chr6:3,019,881-3,019,881
hg38 chr6:3,019,647-3,019,647 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001290221.1:c.688G>C NP_001277150.1:p.Gly230Arg
NM_001318940.1:c.688G>C NP_001305869.1:p.Gly230Arg
NM_001290222.1:c.574G>C NP_001277151.1:p.Gly192Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 160998 OMIM
HGNC 7856 HGNC
Ensembl ENSG00000124588 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24076571 TogoVar
COSMIC COSM3726943 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 pancreatic carcinoma According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.122 pancreatic carcinoma According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.004 Malignant neoplasm of pancreas According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
<0.001 Malignant neoplasm of pancreas According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
Annotation

Annotations

DescrptionSourceLinks
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr6:3,019,881-3,019,881
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1201
Mean of sample read depth (HGVD)
70.33
Standard deviation of sample read depth (HGVD)
30.22
Number of reference allele (HGVD)
2400
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.326394671107411E-4
Gene Symbol (HGVD)
NQO2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs201753355
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0017
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
29
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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